Results 191 to 200 of about 157,645 (329)

Different clinical and genetic features of Alagille patients with progressive disease versus a jaundice‐free course

JGH Open, Volume 6, Issue 12, Page 839-845, December 2022., 2022
This study highlighted the different disease courses of Alagille syndrome patients with progressive disease (PD) or the jaundice‐free (JF) courses based on clinical follow‐up. Patients in the JF group had a favorable outcome and longer native liver survival than the PD group.
Che‐Ming Chiang, Yung‐Ming Jeng, Ming‐Chih Ho, Ming‐Wei Lai, Huei‐Ying Li, Pei‐Lung Chen, Ni‐Chung Lee, Jia‐Feng Wu, Yu‐Chun Chiu, Bang‐Yu Liou, Yen‐Hsuan Ni, Hong‐Yuan Hsu, Mei‐Hwei Chang, Huey‐Ling Chen   +13 more
wiley   +1 more source

DDOST Mutations Identified by Whole-Exome Sequencing Are Implicated in Congenital Disorders of Glycosylation

, 2012
Melanie A. Jones, Bobby Ng, Shruti Bhide, Ephrem Chin, Devin Rhodenizer, Ping He, Marie‐Estelle Losfeld, Miao He, Kimiyo Raymond, Gerard T. Berry, Hudson H. Freeze, Madhuri Hegde   +11 more
openalex   +1 more source

Whole-Exome Sequencing Studies of Nonfunctioning Pituitary Adenomas [PDF]

, 2013
Paul Newey, M. Andrew Nesbit, Andrew J. Rimmer, Rosie Head, Caroline M. Gorvin, Moustafa Attar, Lorna Gregory, John Wass, David Buck, Niki Karavitaki, Ashley Grossman, Gil McVean, Olaf Ansorge, Rajesh V. Thakker   +13 more
openalex   +1 more source

ESR1 Variants and Subcontinental Genomic Ancestry: Insights from the 1000 Genomes Project and Native American Populations

Clinical Pharmacology &Therapeutics, EarlyView.
The ESR1 gene is relevant in breast cancer treatments in the pharmacogenetics context. However, Native, African, and mixed populations are known to be underrepresented in genomic studies. This is particularly important given that the difference in variants' frequencies among different populations can lead to population‐specific clinical implications ...
Mariana M. Scudeler, Caíque Manóchio, Bruno Miwa, Guilherme Belfort‐Almeida, Lucas Faria‐Costa, Cesar Sanchez, Carlos Padilla, Omar Caceres, Eduardo Tarazona‐Santos, Heinner Guio, Timothy D. O'Connor, Fernanda Rodrigues‐Soares   +11 more
wiley   +1 more source

FIRST PHARMACOGENOMIC ANALYSIS USING WHOLE EXOME SEQUENCING TO IDENTIFY NOVEL GENETIC DETERMINANTS OF CLOPIDOGREL RESPONSE VARIABILITY: RESULTS OF THE GENOTYPE INFORMATION AND FUNCTIONAL TESTING (GIFT) EXOME STUDY

, 2012
Matthew J. Price, Andrew R. Carson, Sarah S. Murray, Tierney Phillips, L Huffman Janel, Rebecca L. Tisch, Eric J. Topol, Samuel Lévy   +7 more
openalex   +1 more source

Whole exome sequencing of rare variants in EIF4G1 and VPS35 in Parkinson disease [PDF]

, 2013
Karen Nuytemans, Güney Bademci, Vanessa Inchausti, Amy Dressen, Daniel D. Kinnamon, Arpit Mehta, Liyong Wang, Stephan Züchner, Gary W. Beecham, Eden R. Martin, William K. Scott, Jeffery M. Vance   +11 more
openalex   +1 more source

Navigating Pharmacogenomic Testing in Practice: Who to Test and When to Test

Clinical Pharmacology &Therapeutics, EarlyView.
There is increasing attention on the clinical utility and value of pharmacogenetic (PGx) testing to individualize medication management. Most clinical practice guidelines from medical professional societies do not recommend routine PGx testing, with a few key exceptions.
James M. Stevenson, D. Max Smith, Sony Tuteja, Jai N. Patel, on behalf of the Pharmacogenomics Global Research Network (PGRN) Publications Committee   +4 more
wiley   +1 more source

Genotyping of Fanconi Anemia Patients by Whole Exome Sequencing: Advantages and Challenges

, 2012
Kerstin Knies, Beatrice Schuster, Najim Ameziane, Martin A. Rooimans, Thomas Bettecken, Johan de Winter, Detlev Schindler   +6 more
openalex   +2 more sources

Association of clonal haematopoiesis with heart failure incidence and outcomes: A systematic review and meta‐analysis

European Journal of Heart Failure, EarlyView.
Association of clonal haematopoiesis with heart failure incidence and outcomes: A systematic review and meta‐analysis. Clonal haematopoiesis and heart failure: a meta‐analysis. CH, clonal haematopoiesis; CI, confidence interval; HF, heart failure. [Correction added on 15 March 2025, after first online publication: The graphical image was corrected in ...
Paschalis Karakasis, Eleftheria Lefkou, Konstantinos Pamporis, Dimitrios Farmakis, Dimitrios Patoulias, Antonios P. Antoniadis, Stephane Heymans, Gerasimos Filippatos, Nikolaos Fragakis   +8 more
wiley   +1 more source

Isolated Central Hypothyroidism in Young Siblings as a Manifestation of PROP1 Deficiency: Clinical Impact of Whole Exome Sequencing [PDF]

, 2013
Ari J. Wassner, Laurie E. Cohen, Eliana Hechter, Andrew Dauber   +3 more
openalex   +1 more source